Structural Variants

Structural variants are genetic differences between individuals that alter the DNA sequence of a gene, typically due to large insertions, deletions or rearrangements of segments of the genome. Structural variants can be responsible for a variety of genetic disorders, and are important in understanding the genetic basis of disease, as well as heritable traits and characteristics. Furthermore, structural variants can be used for forensic, diagnostic and therapeutic purposes and have greatly improved our understanding of the regulation of gene expression, providing insights into the complexity of the genome and its role in human biology.